Canonical Allele Identifier: CA2612162261
Gene: HBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226802_5226931del , CM000673.2:g.5226802_5226931del GRCh38
NC_000011.9:g.5248032_5248161del , CM000673.1:g.5248032_5248161del GRCh37
NC_000011.8:g.5204608_5204737del NCBI36
NG_000007.3:g.70688_70817del
NG_059281.1:g.5144_5273del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+2_93del
ENST00000335295.4:c.92+2_93del
ENST00000380315.2:c.92+2_93del
ENST00000485743.1:n.143+2_144del
ENST00000633227.1:c.76+18_77del
NM_000518.4:c.92+2_93del
NM_000518.5:c.92+2_93del